NUDT17 | Mutation | In-Frame | ENST00000334513.5 |
g.145586670_145586675del
|
c.901_906del
|
p.Lys301_Ser302del
|
damaging
|
HIST1H3A | Mutation | In-Frame | ENST00000357647.3 |
g.26020735_26020740del
|
c.18_23del
|
p.Gln6_Ala8delinsHis
|
damaging
|
CDKN1A | Mutation | In-Frame | ENST00000244741.5 |
g.36652015_36652029del
|
c.137_151del
|
p.Arg46_Phe51delinsLeu
|
damaging
|
NTNG1 | Mutation | Missense | ENST00000370065.1 |
g.107973489G>T
|
c.1205G>T
|
p.Gly402Val
|
possibly damaging
|
CELSR2 | Mutation | Missense | ENST00000271332.3 |
g.109794206C>T
|
c.1505C>T
|
p.Ala502Val
|
possibly damaging
|
MAGI3 | Mutation | Missense | ENST00000307546.9 |
g.114225717A>T
|
c.3527A>T
|
p.Glu1176Val
|
possibly damaging
|
VPS13D | Mutation | Missense | ENST00000356315.4 |
g.12379644G>A
|
c.7505G>A
|
p.Arg2502Gln
|
benign
|
RPRD2 | Mutation | Missense | ENST00000369068.4 |
g.150443417T>C
|
c.1993T>C
|
p.Ser665Pro
|
probably damaging
|
MCL1 | Mutation | Missense | ENST00000307940.3 |
g.150551552T>C
|
c.455A>G
|
p.Asn152Ser
|
benign
|
SLC27A3 | Mutation | Missense | ENST00000368661.3 |
g.153748286C>T
|
c.454C>T
|
p.Arg152Cys
|
benign
|
YY1AP1 | Mutation | Missense | ENST00000295566.4 |
g.155630008C>A
|
c.1831G>T
|
p.Val611Leu
|
possibly damaging
|
SLC25A34 | Mutation | Missense | ENST00000294454.5 |
g.16063144C>T
|
c.164C>T
|
p.Ala55Val
|
benign
|
POGK | Mutation | Missense | ENST00000367875.1 |
g.166818803G>C
|
c.987G>C
|
p.Gln329His
|
probably damaging
|
MDM4 | Mutation | Missense | ENST00000367182.3 |
g.204518437C>T
|
c.1100C>T
|
p.Ser367Leu
|
probably damaging
|
VWA5B1 | Mutation | Missense | ENST00000289815.8 |
g.20672051G>A
|
c.2729G>A
|
p.Arg910Gln
|
benign
|
ADCK3 | Mutation | Missense | ENST00000366777.3 |
g.227172295T>A
|
c.1445T>A
|
p.Phe482Tyr
|
possibly damaging
|
EXO1 | Mutation | Missense | ENST00000348581.5 |
g.242020670T>A
|
c.429T>A
|
p.Asp143Glu
|
probably damaging
|
KIF26B | Mutation | Missense | ENST00000407071.2 |
g.245847603C>T
|
c.2327C>T
|
p.Ala776Val
|
probably damaging
|
OR1C1 | Mutation | Missense | ENST00000408896.2 |
g.247920895T>C
|
c.814A>G
|
p.Thr272Ala
|
benign
|
SLC9A1 | Mutation | Missense | ENST00000263980.3 |
g.27426875T>C
|
c.2371A>G
|
p.Ile791Val
|
benign
|
IFI6 | Mutation | Missense | ENST00000339145.4 |
g.27995753C>T
|
c.73G>A
|
p.Glu25Lys
|
benign
|
SPOCD1 | Mutation | Missense | ENST00000360482.2 |
g.32279899C>T
|
c.1036G>A
|
p.Val346Ile
|
benign
|
PRDM16 | Mutation | Missense | ENST00000270722.5 |
g.3328547A>C
|
c.1786A>C
|
p.Ser596Arg
|
possibly damaging
|
EPHA10 | Mutation | Missense | ENST00000373048.4 |
g.38184480G>A
|
c.2765C>T
|
p.Thr922Ile
|
benign
|
POMGNT1 | Mutation | Missense | ENST00000371984.3 |
g.46658618C>T
|
c.1165G>A
|
p.Ala389Thr
|
benign
|